Canonical Allele Identifier: CA2694294453

Gene: BTK

Linked Data

• gnomAD v4: X-101349796-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349796C>A , CM000685.2:g.101349796C>A	GRCh38
NC_000023.10:g.100604784C>A , CM000685.1:g.100604784C>A	GRCh37
NC_000023.9:g.100491440C>A	NCBI36
NG_009616.1:g.41429G>T , LRG_128:g.41429G>T
NG_011734.1:g.4174G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3586G>T
ENST00000488970.2:n.4225G>T
ENST00000695614.1:c.*89G>T	ENSP00000512053.1:n.*89G>T
ENST00000695615.1:c.*89G>T	ENSP00000512054.1:n.*89G>T
ENST00000695616.1:c.*1914G>T	ENSP00000512055.1:n.*1914G>T
ENST00000695617.1:c.*89G>T	ENSP00000512056.1:n.*89G>T
ENST00000695618.1:c.*1818G>T	ENSP00000512058.1:n.*1818G>T
ENST00000695619.1:c.*1779G>T	ENSP00000512059.1:n.*1779G>T
ENST00000695620.1:c.*1995G>T	ENSP00000512060.1:n.*1995G>T
ENST00000695621.1:c.*494G>T	ENSP00000512061.1:n.*494G>T
ENST00000695622.1:c.*89G>T	ENSP00000512062.1:n.*89G>T
ENST00000695623.1:c.*89G>T	ENSP00000512063.1:n.*89G>T
ENST00000695624.1:n.1374G>T
ENST00000695625.1:c.*89G>T	ENSP00000512064.1:n.*89G>T
ENST00000703407.1:c.*89G>T	ENSP00000512057.1:n.*89G>T
ENST00000308731.8:c.*89G>T MANE Select	ENSP00000308176.8:n.*89G>T
ENST00000308731.7:c.*89G>T	ENSP00000308176.7:n.*89G>T
ENST00000372880.5:c.*89G>T	ENSP00000361971.1:n.*89G>T
ENST00000618050.4:c.2068G>T	ENSP00000479125.1:n.2068G>T
ENST00000621635.4:c.*89G>T	ENSP00000483570.1:n.*89G>T
NM_000061.2:c.*89G>T , LRG_128t1:c.*89G>T	NP_000052.1:n.*89G>T
NM_001287344.1:c.*89G>T	NP_001274273.1:n.*89G>T
NM_001287345.1:c.*89G>T	NP_001274274.1:n.*89G>T
NM_000061.3:c.*89G>T MANE Select	NP_000052.1:n.*89G>T
NM_001287344.2:c.*89G>T	NP_001274273.1:n.*89G>T
NM_001287345.2:c.*89G>T	NP_001274274.1:n.*89G>T